Personalized Applications for Advanced Healthcare through AI-ML and Blockchain

Authors: Anuja Vyas, Aikel Indurkhya, Hari Krishna Garg

Abstract:

Nearly 25 years have passed since the landmark publication of the Human Genome Project, yet scientists have only begun to scratch the surface of its potential benefits. To bridge this gap, a personalized genomic application has been envisioned as a transformative tool accessible to people worldwide. This innovative solution proposes an integrated framework combining blockchain technology, genome-specific applications, and data compression techniques, ensuring operations to be swift, secure, transparent, and space-efficient. The software harnesses advanced Artificial Intelligence and Machine Learning methodologies, such as neural networks, evaluation matrices, fuzzy logic, and expert systems, to analyze individual genomic data. It generates personalized reports by comparing a user's genome with a reference genome, highlighting significant differences. Blockchain technology, with its inherent security, encryption, and immutability features, is leveraged for robust data transport and storage. In addition, a 'Data Abbreviation' technique ensures that genetic data and reports occupy minimal space. This integrated approach promises to be a significant leap forward, potentially transforming human health and well-being on a global scale.

Keywords: Artificial intelligence in genomics, blockchain technology, data abbreviation, data compression, data security in genomics, data storage, expert systems, fuzzy logic, genome applications, genomic data analysis, human genome project, neural networks, personalized genomics.

References:

[1] Amaral, P., Carbonell-Sala, S., De La Vega, F.M., Faial, T., Frankish, A., Gingeras, T., Guigo, R., Harrow, J.L., Hatzigeorgiou, A.G., Johnson, R., Murphy, T.D., Pertea, M., Pruitt, K.D., Pujar, S., Takahashi, H., Ulitsky, I., Varabyou, A., Wells, C.A., Yandell, M., Carninci, P., & Salzberg, S.L. (2023). The status of the human gene catalogue. Nature, 622(7981), ArXiv. Online Available at: https://www.ncbi.nlm.nih.gov/ pmc/articles/PMC10055485/#R2
[2] Gencode. (2024). Gencode - Human Release 45 Statistics. Online. Available at: https://www.gencodegenes.org/human/stats_45.html.
[3] Goldman, N., Bertone, P., Chen, S., Dessimoz, C., LeProust, E.M., Sipos, B., & Birney, E. (2013). Towards practical, high-capacity, low-maintenance information storage in synthesized DNA. Nature, 494(7435), 77–80. https://doi.org/10.1038/nature11875.
[4] Panda, D., Molla, K.A., Baig, M.J., Swain, A., Behera, D., & Dash, M. (2018). DNA as a digital information storage device: hope or hype? 3 Biotech, 8(5). https://doi.org/10.1007/s13205-018-1246-7.
[5] Aganezov, S., Yan, S.M., Soto, D.C., Kirsche, M., Zarate, S., Avdeyev, P., & Koren, S. (2022). A complete reference genome improves analysis of human genetic variation. Science, 376(6588). https://doi.org/10.1126/ science.abl3533.
[6] 3billion.io. (2022). Genetic testing for rare diseases company | 3billion. Online. Available at: https://3billion.io/blog/big-data-among-big-data-genome-data.
[7] Buehler, J. (2024). The Complex Truth About ‘Junk DNA’. Quanta Magazine. Online. Available at: https://www.quantamagazine.org/the-complex-truth-about-junk-dna-20210901/.
[8] Caudai, C., Galizia, A., Geraci, F., Le Pera, L., Morea, V., Salerno, E., & Colombo, T. (2021). AI applications in functional genomics. Computational and Structural Biotechnology Journal, 19, 5762–5790. https://doi.org/10.1016/j.csbj.2021.10.009.
[9] Deorowicz, S., Danek, A., & Niemiec, M. (2015). GDC 2: Compression of large collections of genomes. Scientific Reports, 5(1). https://doi.org/ 10.1038/srep11565.
[10] Wang, C., & Zhang, D. (2011). A novel compression tool for efficient storage of genome resequencing data. Nucleic Acids Research, 39(7), e45. https://doi.org/10.1093/nar/gkr009.
[11] Yakubu, A.M., & Chen, Y.P.P. (2022). A blockchain-based application for genomic access and variant discovery using smart contracts and homomorphic encryption. Future Generation Computer Systems, 137, 234-247. https://www.sciencedirect.com/science/article/abs/pii/S0167739X22002400#:~:text=We%20use%20blockchain%20transactions%20and,securely%20discover%20DOs%20of%20interest.
[12] Mackey, T.K., Kuo, T.T., Gummadi, B., Clauson, K.A., Church, G., Grishin, D., Obbad, K., Barkovich, R., & Palombini, M. (2019). ‘Fit-for-purpose?’ – Challenges and Opportunities for applications of blockchain technology in the future of Healthcare. BMC Medicine, BioMed Central 17, 68. https://bmcmedicine.biomedcentral.com/articles/10.1186/s129 16-019-1296-7.
[13] Garg, H.K., & Vyas, A. (2024). Exploring Genome Projects and Beyond - Untwining the Past, Present & Future for Transformative Applications. Online. Available at: https://zenodo.org/records/10466512.